Canonical Allele Identifier: CA1539618471

Gene: NIPBL

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.37045458_37045461delinsTAAA , CM000667.2:g.37045458_37045461delinsTAAA	GRCh38
NC_000005.9:g.37045560_37045563delinsTAAA , CM000667.1:g.37045560_37045563delinsTAAA	GRCh37
NC_000005.8:g.37081317_37081320delinsTAAA	NCBI36
NG_006987.1:g.173576_173579delinsTAAA
NG_006987.2:g.173576_173579delinsTAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.6359_6362delinsTAAA MANE Select	ENSP00000282516.8:p.Leu2120=
ENST00000652901.1:c.6359_6362delinsTAAA	ENSP00000499536.1:p.Leu2120=
ENST00000282516.12:c.6359_6362delinsTAAA	ENSP00000282516.8:p.Leu2120=
ENST00000448238.2:c.6359_6362delinsTAAA	ENSP00000406266.2:p.Leu2120=
ENST00000621733.1:c.1-19120_1-19117delinsTAAA	ENSP00000480694.1:n.1-19120_1-19117delinsTAAA
NM_015384.4:c.6359_6362delinsTAAA	NP_056199.2:p.Leu2120=
NM_133433.3:c.6359_6362delinsTAAA	NP_597677.2:p.Leu2120=
XM_005248280.2:c.6359_6362delinsTAAA	XP_005248337.1:p.Leu2120=
XM_005248282.3:c.5615_5618delinsTAAA	XP_005248339.2:p.Leu1872=
XM_006714467.2:c.6359_6362delinsTAAA	XP_006714530.1:p.Leu2120=
XM_006714468.1:c.6161_6164delinsTAAA	XP_006714531.1:p.Leu2054=
XM_011514014.1:c.5978_5981delinsTAAA	XP_011512316.1:p.Leu1993=
XM_011514015.1:c.6359_6362delinsTAAA	XP_011512317.1:p.Leu2120=
XM_005248280.3:c.6359_6362delinsTAAA	XP_005248337.1:p.Leu2120=
XM_005248282.5:c.5699_5702delinsTAAA	XP_005248339.3:p.Leu1900=
XM_006714468.2:c.6161_6164delinsTAAA	XP_006714531.1:p.Leu2054=
XM_017009329.1:c.6359_6362delinsTAAA	XP_016864818.1:p.Leu2120=
XM_017009330.2:c.4742_4745delinsTAAA	XP_016864819.1:p.Leu1581=
XM_017009331.1:c.4733_4736delinsTAAA	XP_016864820.1:p.Leu1578=
NM_133433.4:c.6359_6362delinsTAAA MANE Select	NP_597677.2:p.Leu2120=
NM_015384.5:c.6359_6362delinsTAAA	NP_056199.2:p.Leu2120=